..One thousand and ten unrelated high-risk probands with breast and/or ovarian cancer were analysed for the presence of a BRCA1 or BRCA2 gene mutation at the Masaryk Memorial Cancer Institute (Czech Republic) during 1999-2006...

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic

..In some variants it is not clear yet whether they are just insignificant polymorphisms or pathogenic mutations. The interpretation of test results in the context of the whole family history is important...

Genetic and preventive services for hereditary breast and ovarian cancer in the czech republic

..However, in some patients the testing is not recommended and other family members are dying because of the late diagnosis of hereditary syndrome. Greater awareness of the importance of genetic testing in oncology is needed...

..2% of all cancers. The ratio of female to male breast cancer is approximately 100:1. In this study, we review our experience with diagnosis, surgical treatment, and overall management of patients with MBC...

A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families

E MachackovaCas Lek Cesk 139:635-7. 2000

..About 5-10% of breast and ovarian cancer can be of hereditary origin. Germline mutations in BRCA1 or BRCA2 and probably other yet unknown genes may cause predisposition to these cancers...

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2

..In particular, further investigation of OGG1, MGMT, and CHEK2 focusing on the genetic regions where the present markers are located or the haplotype blocks tightly linked with these markers might be warranted...

A rare tumor and an ethical dilemma in a family with a germline TP53 mutation

Family history of hematopoietic malignancies and risk of non-Hodgkin lymphoma (NHL): a pooled analysis of 10 211 cases and 11 905 controls from the International Lymphoma Epidemiology Consortium (InterLymph)

..0; 95% CI = 1.6-5.6). The pattern of NHL heritability appeared to be uniform across NHL subtypes, but risk patterns differed by specific hematopoietic malignancies and the sex of the relative, revealing critical clues to disease etiology...

Influence of familial cancer history on lymphoid neoplasms risk validated in the large European case-control study epilymph

..Our study suggests familial aggregation of CLL with a family history of haematological cancer and of HL with a family history of lymphoma. The transmission pattern suggests a dominant model of heredity...

A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors

..The product of the normal allele can potentially be inactivated by a variety of other mechanisms or, as suggested by the analysis, many of these tumors may even preserve the activity of the wild-type p53 protein...